Endocrine Abstracts

Familial glucocorticoid deficiency (FGD;OMIM 202200) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation. Half of all cases are caused by mutations in MC2R, MRAP or STAR. SNP array genotyping of FGD patients of unknown aetiology mapped a disease locus to chromosome 5p13-q12. Targeted exome sequencing of 5p13-q12 in one patient identified a homozygous mutation, p.Ala533Val, in nicotinamide nucleotide transhyd...

Introduction: A unique variant of familial glucocorticoid deficiency (FGD) exists in the Irish travelling community, a genetically isolated population with high levels of consanguinity. Affected children develop hypocortisolaemia and raised ACTH but retain normal renin and aldosterone levels. Children also have short stature, evidence of increased chromosomal breakage and natural killer cell deficiency.Methods: We sought areas of homozygosity common to a...

The management of metastatic differentiated thyroid carcinoma included until recently the use of therapeutic 131I, radiotherapy and in specific cases chemotherapy. However, recently new agents entered in the management of differentiated metastatic thyroid carcinoma which aim at specific cell receptors and inhibit the growth of the carcinoma in a specific and targeted way.The aim was to present the experience of the use of the receptor tyrosine...

Differentiated thyroid carcinoma represents a small percentage of human carcinomas. However, it is the commonest endocrine neoplasm and if diagnosed and treated properly does not affect the long-term survival of the patients.Aim: The aim was to study differentiated thyroid carcinoma affecting young adults.Patients and methods: All patients presenting with thyroid carcinoma to the department from 01.01.2002 to 31.12.2008 were review...

Medullary thyroid carcinoma is an uncommon malignancy of hereditary and sporadic presentation. Mutations in the RET-protooncogene are involved in the pathogenesis of >50% of the sporadic cases. Currently, there is no effective treatment for metastatic medullary thyroid carcinoma. The aim was to present a case of metastatic medullary thyroid carcinoma that was treated by the administration of sorafenib, a multiple kinase inhibitor.A patient, female ag...

Well differentiated thyroid carcinoma is associated with prolonged survival in terms of decades and anaplastic carcinoma is associated with survival in months. Intermediate malignancy with a more guarded prognosis is also known to exist.The aim was to describe the case of a patient with a mixed papillary, poorly differentiated and anaplastic thyroid carcinoma.A female patient, aged 73 years presented with a multinodular goiter and ...

IntroductionShort stature (SS) assessment includes the documentation of growth hormone (GH) secretion via GH stimulation tests.ObjectivesTo study retrospectively GH stimulation test results among Greek children with SS and investigate differences among GH deficient (GHD) children vs idiopathic short stature (ISS).MethodsData were collected retrospectively from 190...

Purpose: Vasomotor symptoms (VMS) adversely affect postmenopausal quality of life. However, their impact on bone health has not been elucidated. This study aimed to systematically review and meta-analyze the evidence regarding the association of VMS with fracture risk and bone mineral density (BMD) in peri- and postmenopausal women.Methods: A literature search was conducted in PubMed, Scopus and Cochrane databases until 31 August 2023. Fracture, low BMD ...

Introduction: Cyclic Cushing’s syndrome is a rare disease characterized by episodes of cortisol hypersecretion followed by periods of normal cortisol secretion, ranging from days to months. We report a case of cyclic Cushing’s syndrome whose diagnosis was delayed for years.Case presentation: A 50-year-old female with a 16-year history of non-Hodgkin’s lymphoma was referred to the Endocrinology Unit due to suspected hypercortisolemia. She h...

Background: Previous research suggests an association between specific genetic variations and interindividual variability in response to treatment with glucagon-like receptor agonists (GLP-1 RAs) in patients with type 2 diabetes mellitus (T2DM). We aimed to evaluate the role of CTRB1/2 rs7202877 (T>G) polymorphism in glycemic control and weight loss response to liraglutide among Greek patients with T2DM and to identify clinical factors related to prediction of res...